Stéphanie S. Cornelis

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan et al. · Genetics in Medicine · 2019 · 192 citations · Full text

<i>ABCA4</i>midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

Riccardo Sangermano, Mubeen Khan, Stéphanie S. Cornelis et al. · Genome Research · 2017 · 170 citations · Full text

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero et al. · Genetics in Medicine · 2020 · 139 citations · Full text

Functional Genomics, Medicine, Natural Sciences +11

The Common<i>ABCA4</i>Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in<i>trans</i>With Severe Variants

Esmee H. Runhart, Riccardo Sangermano, Stéphanie S. Cornelis et al. · Investigative Ophthalmology & Visual Science · 2018 · 87 citations · Full text

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity

Stéphanie S. Cornelis, Esmee H. Runhart, Miriam Bauwens et al. · The American Journal of Human Genetics · 2022 · 57 citations · Full text

Reproductive Genetic Counseling, Personalized Genetic Counseling, Genetics +10